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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TLR1 Gene

protein-coding GIFtS: 69
GCID: GC04M038797

Toll-Like Receptor 1

Microbiology & Infectious Diseases Congress

56 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Toll-Like Receptor 1¹ ²		CD281²
Toll/Interleukin-1 Receptor-Like Protein² ³		rsc786²
TIL² ³		KIAA0012³
TIL. LPRS5² ⁵		CD281 Antigen³

External Ids:	HGNC: 11847¹	Entrez Gene: 7096²	Ensembl: ENSG00000174125⁷	OMIM: 601194⁵	UniProtKB: Q15399³

Export aliases for TLR1 gene to outside databases

Previous GC identifers: GC04P039090 GC04M038961 GC04M038632 GC04M038695 GC04M038620 GC04M038474 GC04M038122

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TLR1 Gene:

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role

in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans

and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs)

that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of

effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously

expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use

of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. (provided

by RefSeq, Jul 2008)

GeneCards Summary for TLR1 Gene:

TLR1 (toll-like receptor 1) is a protein-coding gene. Diseases associated with TLR1 include leprosy, protection against, and invasive aspergillosis, and among its related super-pathways are Immune response TLR signaling pathways and Toll-like receptor signaling pathway. GO annotations related to this gene include transmembrane signaling receptor activity and protein heterodimerization activity. An important paralog of this gene is ENSG00000173366.

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399

Function: Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and

triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or

lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory

response (By similarity)

summary for TLR1 Gene:

Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the

innate immune system. TLRs generally exist as homodimers (although TLR2-TLR6 heterodimers have been

reported) and are found on immune cells such as macrophages, B lymphocytes and mast cells. Toll-like

receptors are activated by molecules associated with biological threat and are highly specific towards

evolutionary conserved entities on microbes, such as bacterial cell-surface lipopolysaccharides, flagella

and unmethylated CpG islands. It has been suggested that some toll-like receptors may have endogenous

ligands, such as Hsp60 and fibrinogen, and this has promoted speculation that endogenous toll-like receptor

activators may have a pathological role in autoimmune disease. Activation of toll-like receptors initiates

downstream signaling cascades, initially via the adapter molecules MyD88, Trap, Trif and Tram, which

converge on the PI 3-K and NF-kappaB pathways and regulate intracellular kinases and gene expression. This

can stimulate an inflammatory and/or antigen-specific immune response. The signaling cascade coupled to

toll-like receptor activation is very similar to that of interleukin-1 receptor (IL-1R) activation.

Gene Wiki entry for TLR1 (TLR 1) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_016297.16 NC_018915.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TLR1 gene promoter:
AP-1 FOXO4 ATF-2 POU3F2 (N-Oct-5b) c-Jun GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TLR1 promoter sequence

Search SABiosciences Chromatin IP Primers for TLR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TLR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14 Ensembl cytogenetic band: 4p14 HGNC cytogenetic band: 4p14

TLR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TLR1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M038797: view genomic region (about GC identifiers)

Start:	38,792,298 bp from pter	End:	38,858,438 bp from pter
Size:	66,141 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399 (See protein sequence)

Recommended Name: Toll-like receptor 1 precursor

Size: 786 amino acids; 90291 Da

Subunit: Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity). Interacts (via extracellular domain)

with TLR2. Ligand binding induces the formation of a heterodimer with TLR2

Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasmic vesicle,

phagosome membrane; Single-pass type I membrane protein (By similarity)

Sequence caution: Sequence=BAA02801.2; Type=Erroneous initiation;

2 PDB 3D structures from and Proteopedia for TLR1:

1FYV (3D)

2Z7X (3D)

Secondary accessions: D1CS39 D1CS41 O15452 Q32MK3 Q9UG90

Explore the universe of human proteins at neXtProt for TLR1: NX_Q15399

Explore proteomics data for TLR1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q15399

TLR1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_003254.2

ENSEMBL proteins:

ENSP00000421259 ENSP00000421856 ENSP00000423017 ENSP00000423725 ENSP00000424894

ENSP00000354932

Human Recombinant Protein Products for TLR1:

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	Novus Biologicals TLR1 Proteins Novus Biologicals TLR1 Lysate
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	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for TLR1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	9435236
GO:0005887	integral to plasma membrane	TAS	9435236
GO:0016020	membrane	NAS	11081518
GO:0016021	integral to membrane	--	--
GO:0030670	phagocytic vesicle membrane	IEA	--

TLR1 for ontologies About GeneDecksing

TLR1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TLR1
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	Cell Signaling Technology (CST) Antibodies for TLR1
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	GenScript Custom Superior Antibodies Services for TLR1
	Novus Biologicals TLR1 Antibodies
	Abcam antibodies for TLR1
	Cloud-Clone Corp. Antibodies for TLR1
	ThermoFisher Antibodies for TLR1
	LSBio Antibodies in human, mouse, rat for TLR1

Assay Products for TLR1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for TLR1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TLR1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for TLR1 Cloud-Clone Corp. CLIAs for TLR1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

CD: CD molecules

IUPHAR Guide to PHARMACOLOGY protein family classification: TLR1

Toll-like receptor family

5 InterPro protein domains:

IPR000483 Cys-rich_flank_reg_C

IPR027190 TLR1

IPR001611 Leu-rich_rpt

IPR000157 TIR_dom

IPR017241 Toll-like_receptor

Graphical View of Domain Structure for InterPro Entry Q15399

ProtoNet protein and cluster: Q15399

2 Blocks protein domains:

IPB000157 TIR domain

IPB000483 Cysteine-rich flanking region

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399

Similarity: Belongs to the Toll-like receptor family

Similarity: Contains 19 LRR (leucine-rich) repeats

Similarity: Contains 1 LRRCT domain

Similarity: Contains 1 TIR domain

TLR1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TLR1_HUMAN, Q15399

Function: Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and

triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or

lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory

response (By similarity)

Genatlas biochemistry entry for TLR1:

Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced

isoforms,tissue specific,maybe involved in morphogenesis and immune defense

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	10426995
GO:0004888	transmembrane signaling receptor activity	NAS	11081518
GO:0005515	protein binding	--	--
GO:0046982	protein heterodimerization activity	IDA	17889651

TLR1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for TLR1:

Decreased Wnt reporter activit

1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Tlr1):

immune system

TLR1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for TLR1: Tlr1^tm1Aki Tlr1^tm1Flv

inGenious Targeting Laboratory - Custom generated mouse model solutions for TLR1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TLR1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TLR1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TLR1

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: TLR1 (NM_003263)
		Sino Biological Human cDNA Clone for TLR1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TLR1
		Search LifeMap BioReagents cell lines for TLR1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLR1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for TLR1 About (see all 19)

See pathways by source

SuperPath

Contained pathways About

Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response

Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response

0.94

Immune response TLR signaling pathways

0.94

Toll-like receptor signaling pathway

Toll-like receptor signaling pathway

0.93

Toll-like receptor signaling pathway

0.93

TRAF6 Mediated Induction of proinflammatory cytokines

Activated TLR4 signalling	0.87	Toll Like Receptor TLR6:TLR2 Cascade	0.86
Toll Like Receptor 4 (TLR4) Cascade	0.87	Toll Like Receptor TLR1:TLR2 Cascade	0.86
Toll-Like Receptors Cascades	0.87	MyD88:Mal cascade initiated on plasma membrane	0.86
Toll Like Receptor 2 (TLR2) Cascade	0.86

Toll-Like receptor Signaling Pathways

	Toll-Like receptor Signaling Pathways	0.59			Inflammasome Activation Pathways	0.52
	NOD-like Receptor Signaling Pathways	0.59

Beta defensins

Defensins

0.80

Beta defensins

0.80

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for TLR1

Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response

5/6 R&D Systems Pathways for TLR1 (see all 6)

	NOD-like Receptor Signaling Pathways
	Inflammasome Activation Pathways
	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
	Th1 Differentiation
	Toll-Like receptor Signaling Pathways

5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TLR1 (see all 8)

	NF-KappaB (p50-p65) Pathway
	Toll-Like Receptors Pathway
	TRAF Pathway
	TREM1 Pathway
	Colorectal Cancer Metastasis

1 Cell Signaling Technology (CST) Pathway for TLR1

NF-kappaB Signaling

1 Tocris Bioscience Pathway for TLR1

Toll-like Receptor Pathway

3 GeneGo (Thomson Reuters) Pathways for TLR1

	Immune response Bacterial infections in normal airways
	Immune response TLR signaling pathways
	Bacterial infections in CF airways

1 BioSystems Pathway for TLR1

Toll-like receptor signaling pathway

1 Sino Biological Pathway for TLR1

NF-kB (NFkB) Pathway

2 Kegg Pathways (Kegg details for TLR1):

	Toll-like receptor signaling pathway
	Tuberculosis

TLR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TLR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/25 Interacting proteins for TLR1 (Q15399³ ENSP00000354932⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPD1	P10809³, ENSP00000340019⁴	I2D: score=2 STRING: ENSP00000340019
TLR10	Q9BXR5³, ENSP00000308925⁴	I2D: score=2 STRING: ENSP00000308925
TRAP1	Q12931³, ENSP00000246957⁴	I2D: score=2 STRING: ENSP00000246957
TIRAP	P58753³, ENSP00000376445⁴	I2D: score=1 STRING: ENSP00000376445
TLR9	Q9NR96³, ENSP00000353874⁴	I2D: score=1 STRING: ENSP00000353874

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002224	toll-like receptor signaling pathway	--	--
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	IEA	--
GO:0006952	defense response	--	--
GO:0006954	inflammatory response	IEA	--
GO:0006955	immune response	TAS	10426995

TLR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TLR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for TLR1

Compounds for TLR1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Pam2CSK4	TLR2/6 agonist; induces TNF-alpha production	[868247-72-7]
Resiquimod	Toll-like receptor 7 (TLR7) agonist	[144875-48-9]
Pam3CSK4	TLR1/2 agonist; induces cytokine production	[112208-00-1]
Poly(I:C)	TLR3 agonist	[42424-50-0]
Imiquimod	Toll-like receptor 7 (TLR7) agonist	[99011-02-6]

4 Novoseek inferred chemical compound relationships for TLR1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipoteichoic acid	73.9	4	14500472 (2), 10364168 (1)
flagellin	70.4	2	16479520 (1), 19270494 (1)
peptidoglycan	69.8	9	18424724 (2), 12874299 (1), 16374251 (1), 11254583 (1)
lipid	0	4	17419716 (1), 17889651 (1)

Search CenterWatch for drugs/clinical trials and news about TLR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TLR1 gene:

NM_003263.3

Unigene Cluster for TLR1:

Toll-like receptor 1

Hs.654532 [show with all ESTs]

Unigene Representative Sequence: NM_003263

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000510552 ENST00000505744 ENST00000502213 ENST00000505940 ENST00000515861

ENST00000506146 ENST00000508364 ENST00000509754 ENST00000508535 ENST00000308979(uc003gtl.3)

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TLR1

Additional mRNA sequence:

AB445617.1 AK292982.1 AL050262.1 BC089403.1 BC109093.1 BC109094.1 CR533562.1 D13637.1

DQ012254.1 DQ012255.1 DQ012256.1 DQ012257.1 DQ012258.1 DQ012259.1 DQ012260.1 DQ012261.1

DQ012262.1 DQ012263.1 DQ012264.1 U88540.1

8 DOTS entries:

DT.210982 DT.121275795 DT.121276009 DT.100740843 DT.121275964 DT.121276003 DT.206550 DT.121275790

24/37 AceView cDNA sequences (see all 37):

BU676863 AA251768 NM_003263 CA438677 BP375715 CD368967 BU623316 D13637

U88540 AL050262 BX498528 BQ003287 AA953203 CF121621 CR533562 AW967990

CA394039 AW117540 BX093274 AA740844 AA928360 AA886180 BX498541 AL035755

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TLR1 (see all 8) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f
SP1:																					-
SP2:													-								-
SP3:															-						-
SP4:			-		-		-		-		-				-
SP5:															-		-		-		-

ECgene alternative splicing isoforms for TLR1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TLR1 expression in normal human tissues (normalized intensities) TLR1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCAGGAGGA

About this image

TLR1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/3 selected tissues (see all 3) fully expand


Blood (Hematopoietic System) fully expand to see all 2 entries
Hematopoietic Stem Cells Aorta-Gonad-Mesonephros

Lateral Plate Mesoderm (Gastrulation Derivatives)
Hematopoietic Stem Cells Aorta-Gonad-Mesonephros

Spleen (Hematopoietic System)
Conventional Dendritic Cells II Spleen

See TLR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TLR1

SOURCE GeneReport for Unigene cluster: Hs.654532

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399

Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small

intestine

SABiosciences Expression via Pathway-Focused PCR Arrays including TLR1 (see all 8):

Innate & Adaptive Immune Responses in human mouse rat

Antigen Presenting Cells in human mouse rat

Toll-Like Receptor Signaling Pathway in human mouse rat

NFKB Signaling Pathway in human mouse rat

Inflammatory Response & Autoimmunity in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TLR1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLR1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TLR1 gene from 5/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tlr1^{1 , 5}	toll-like receptor 1^{1, 5}	77.1(n)¹ 74.07(a)¹		5 (33.53 cM)⁵ 21897¹ NM_030682.1¹ NP_109607.1¹ 64924834⁵
chicken (Gallus gallus)	Aves	TLR6⁶ TLR6⁶	toll-like receptor 6 precursor	49(a) 47(a)	many ↔ many many ↔ many	4(69117413-69122553) 4(69131053-69133509)
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	48(a) 48(a)	many ↔ many many ↔ many	GL343361.1(130910-133312) GL343361.1(162095-164458)
zebrafish (Danio rerio)	Actinopterygii	tlr1⁶	toll-like receptor 1	34(a)	1 → many	14(733852-738712)
fruit fly (Drosophila melanogaster)	Insecta	Toll-9⁶ Tehao⁶ (see all 5)	Tehao (see all 5)	19(a) 16(a) (see all 5)	1 ↔ many possible ortholog (see all 5)	3L(20354943-20359824) 2L(13435622-13439333)

ENSEMBL Gene Tree for TLR1 (if available)
TreeFam Gene Tree for TLR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TLR1 gene

ENSG00000173366² CD180² TLR7² TLR9² TLR5² TLR10² TLR4² TLR8²

TLR6² TLR3² TLR2²

3 SIMAP similar genes for TLR1 using alignment to 15 protein entries: TLR1_HUMAN (see all proteins):

TLR6 TLR10 TLR2

TLR1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for TLR1
PGOHUM00000244664

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399

Polymorphism: Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy

and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is

associated with impaired cell surface expression and receptor function resulting in protection against leprosy

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137853175^1,2	C,F	untested¹	38689575(-)	`ACTTTG/ATTCCT`	2	/I /V	mis¹		1		NA	4550
rs137853174^1,2	C,F	untested¹	38689643(-)	`CTGGGT/CGAAGA`	2	/A /V	mis¹		1		NA	4552
rs137853173^1,2	C	untested¹	38689934(-)	`TTCTTA/GTAAGT`	2	Y C	mis¹		1		NA	4548
rs137853172^1,2,4	C,F	untested¹	38689970(-)	`CCAAGT/CATCAA`	2	/A /V	mis¹		1		NA	4550
rs137853171^1,2,4	C	untested¹	38690217(-)	`AGAGCA/GTTCCT`	2	I V	mis¹		0	--	--	--	--
rs137853170^1,2,4	C	untested¹	38691371(-)	`TTTGAC/TAATTT`	2	T I	mis¹		0	--	--	--	--
rs5743618^1,2,4	C,F,A	other¹	38689790(-)	`CTGCAG/TCTACT`	2	S I	mis¹ ese³		14		NA EU WA CSA	5860
rs4833095^1,2,4	C,F,A,H	other¹	38690852(+)	`TAAGAT/CTTGAT`	2	/N /S	mis¹		36		EA NA EU NS WA CSA	8080
VAR_066346⁴		--	--	see VAR_066346	2	V A	mis⁴		0	--	--	--	--
VAR_066345⁴		--	--	see VAR_066345	2	Y C	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for TLR1 (38792298 - 38858438 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for TLR1: About this table

Variant ID	Type	Subtype	PubMed ID
dgv5526n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): TLR1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TLR1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 601194
OMIM disorders: 613223
20/56 diseases for TLR1 (see all 56):    About MalaCards

leprosy, protection against invasive aspergillosis lyme disease bacteriuria

melioidosis malt lymphoma pulmonary tuberculosis leprosy

filariasis pandas aspergillosis bronchiolitis

pelvic inflammatory disease bronchiolitis obliterans acne tuberculosis

vaginitis behcet's disease tonsillitis cystic fibrosis

1 disease from the University of Copenhagen DISEASES database for TLR1:

Lyme disease

TLR1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

10/11 Novoseek inferred disease relationships for TLR1 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lyme disease	44.1	1	16479520 (1)
necrosis	29.8	3	16048981 (1), 14500472 (1)
virus infection	22.7	1	11607792 (1)
bacterial infections	19.6	1	20153434 (1)
mycobacterial infection	19.3	1	14687934 (1)
sepsis	17.7	3	18635889 (2), 15794413 (1)
malt lymphoma	16.6	1	12519297 (1)
tumors	6.07	3	16048981 (1), 14500472 (1)
tuberculosis	3.87	3	17595679 (1), 19636364 (1), 16493059 (1)
asthma	0	1	18547625 (1)

Genetic Association Database (GAD): TLR1
Human Genome Epidemiology (HuGE) Navigator: TLR1 (62 documents)

Export disorders for TLR1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TLR1 gene, integrated from 9 sources (see all 270):
(articles sorted by number of sources associating them with TLR1)

Utopia: connect your pdf to the dynamic
world of online information

Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PubMed id 19456232)^{1, 2, 4} Schuring R.P....Oskam L. (2009)
A family of human receptors structurally related to Drosophila Toll. (PubMed id 9435236)^{1, 2, 3} Rock F.L.... Bazan J.F. (1998)
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)^{1, 2, 3} Nomura N.... Tabata S. (1994)
Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction. (PubMed id 18461142)^{1, 4, 9} Misch E.A....Hawn T.R. (2008)
Crystal structure of the TLR1-TLR2 heterodimer induced by binding of a tri-acylated lipopeptide. (PubMed id 17889651)^{1, 2, 9} Jin M.S....Lee J.-O. (2007)
Toll-like receptor-1, -2, and -6 polymorphisms influence disease extension in inflammatory bowel diseases. (PubMed id 16374251)^{1, 4, 9} Pierik M....Vermeire S. (2006)
TLR1 and TLR6 polymorphisms are associated with susceptibility to invasive aspergillosis after allogeneic stem cell transplantation. (PubMed id 16461792)^{1, 4, 9} Kesh S....Papanicolaou G.A. (2005)
Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PubMed id 19200604)^{1, 4, 9} Verstraelen H....Temmerman M. (2009)
Toll-like receptor polymorphisms and susceptibility t o urinary tract infections in adult women. (PubMed id 19543401)^{1, 4, 9} Hawn T.R....Hooton T.M. (2009)
Genetic variation in the toll-like receptor gene cluster (TLR10-TLR1-TLR6) and prostate cancer risk. (PubMed id 18752252)^{1, 4, 9} Stevens V.L....Rodriguez C. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7096	HGNC: 11847	AceView: TLR1	Ensembl:ENSG00000174125	euGenes: HUgn7096
ECgene: TLR1	Kegg: 7096	H-InvDB: TLR1

(According to HUGE)
About This Section

HUGE: KIAA0012

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TLR1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TLR1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TLR1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TLR1 gene:
Search GeneIP for patents involving TLR1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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